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Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5. Genet Med. 2011. PMID: 21836522
Expanding the "E" in CHARGE.
Alazami AM, Alzahrani F, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376. Am J Med Genet A. 2008. PMID: 18553515 No abstract available.
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.
Al-Dosari MS, Al-Muhsen S, Al-Jazaeri A, Mayerle J, Zenker M, Alkuraya FS. Al-Dosari MS, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401. Am J Med Genet A. 2008. PMID: 18553553
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Alsmadi O, et al. Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. Eur J Hum Genet. 2009. PMID: 18701883 Free PMC article.
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh MA, Al-Hassnan ZN, Aldosari M, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Neurogenetics. 2009 Oct;10(4):307-11. doi: 10.1007/s10048-009-0185-1. Epub 2009 Mar 10. Neurogenetics. 2009. PMID: 19277732
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.
Aldahmesh MA, Abu-Safieh L, Khan AO, Al-Hassnan ZN, Shaheen R, Rajab M, Monies D, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Feb 15;149A(4):662-5. doi: 10.1002/ajmg.a.32753. Am J Med Genet A. 2009. PMID: 19283855
Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
Aldahmesh MA, Khan AO, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya fs. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4142-5. doi: 10.1167/iovs.08-3006. Epub 2009 Apr 15. Invest Ophthalmol Vis Sci. 2009. PMID: 19369245
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
Safieh LA, Khan AO, Alkuraya FS. Safieh LA, et al. Among authors: alkuraya fs. Mol Vis. 2009 May 15;15:980-4. Mol Vis. 2009. PMID: 19461931 Free PMC article.
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